Merlin (Protein)

• OMIM: 607379

• MGI: 97307

, Called Merlin also Neurofibromin 2 or schwannomin, is a protein of the cytoskeleton. In humans it is a tumor suppressor protein that is involved in the pathogenesis of neurofibromatosis type 2. Sequence analyzes have shown the similarity of the protein with the ezrin - moesin - Radexin protein family. The name Merlin is an acronym for moesin - ezrin - radixin -like protein and has nothing to do with the eponymous fictional character of the magician Merlin.

Gene

For the human Merlin encoding the NF -2 gene on chromosome 22, The house mouse Merlin gene is located on chromosome 11 of the mouse and the Merlin gene of the brown rat on the rat chromosome 17 The Drosophila Merlin gene ( symbol Mer ) is located on chromosome 1 and has a 58 -percent sequence similarity with its human homologue. Other merlin similar genes are known by many animals, and the emergence of Merlin is suspected for the time of the origin of metazoans. Merlin is a member of the ERM family of proteins belonging to the ezrin, moesin and radixin. They belong to the protein superfamily of proteins 4.1. Merlin is also called schwannomin. This is a name for the most common tumor in NF2 patients, the schwannoma.

Structure

Merlin the vertebrate is a 70 - kDa protein. There are ten known isoforms of the human Merlin molecule. The entire molecule has a length of 595 amino acids. The two most common isoforms are also found in the mouse, are called type 1 and type 2 and differ by the absence or presence of the respective exons 16 or 17, all known variants have a highly conserved N - terminal part of a so-called FERM domain contains, which is found in many proteins that link the cytoskeleton to the cell membrane. The FERM domain followed by an α - helix with a hydrophilic portion. Merlin can form dimers with itself and heterodimers with other members of the ERM family.

Function

Merlin is a membrane - cytoskeletal protein folding. That is, it connects actin filaments with the cell membrane or membrane glycoproteins. The human Merlin is mainly found in nervous tissue and some fetal tissues, and can be found mainly in the field of adherens junctions. His tumor suppressor properties may be connected to the contact -mediated growth inhibition. The Merlin of Drosophila is expressed mainly in embryonic hindgut, salivary glands and imaginal discs and obviously has a slightly different function than the Merlin of vertebrates.

Phosphorylation of serine 518 number changes the function of the Merlin. For merlin -dependent signal path probably include some of the mechanisms that regulate cell division, allowing eIF3c, CD44, protein kinase A and p21 - activated kinases.

Mutations in the NF2 gene, cause an autosomal dominant disorder in humans, the neurofibromatosis type 2 This disease is characterized (also called Akustikusneurom ) by the development of tumors of the nervous system, bilateral vestibular schwannomas primarily. NF2 is one of the tumor suppressor genes.